Incidental Mutation 'IGL01640:Il31ra'
ID |
93113 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Il31ra
|
Ensembl Gene |
ENSMUSG00000050377 |
Gene Name |
interleukin 31 receptor A |
Synonyms |
GLM-R, GPL |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01640
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
112649439-112717266 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 112668292 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 453
(I453V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152979
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051756]
[ENSMUST00000223752]
[ENSMUST00000223819]
[ENSMUST00000224510]
[ENSMUST00000224576]
|
AlphaFold |
Q8K5B1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051756
AA Change: I426V
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000058045 Gene: ENSMUSG00000050377 AA Change: I426V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
FN3
|
115 |
198 |
7.75e0 |
SMART |
Blast:FN3
|
216 |
297 |
1e-40 |
BLAST |
FN3
|
325 |
394 |
1.15e1 |
SMART |
FN3
|
408 |
490 |
7.18e-3 |
SMART |
low complexity region
|
508 |
522 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223577
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223752
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223819
AA Change: I453V
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224070
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224510
AA Change: I345V
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224576
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the type I cytokine receptor family. This receptor, with homology to gp130, is expressed on monocytes, and is involved in IL-31 signaling via activation of STAT-3 and STAT-5. It functions either as a monomer, or as part of a receptor complex with oncostatin M receptor (OSMR). Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011] PHENOTYPE: Homozygous null mice display no apparent abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003H04Rik |
T |
C |
3: 124,373,587 (GRCm39) |
T3A |
probably damaging |
Het |
4933402N03Rik |
A |
T |
7: 130,740,848 (GRCm39) |
S123T |
possibly damaging |
Het |
Adamts17 |
A |
T |
7: 66,679,428 (GRCm39) |
T559S |
probably damaging |
Het |
Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
Arel1 |
G |
A |
12: 84,967,475 (GRCm39) |
T783M |
probably damaging |
Het |
B3gntl1 |
C |
T |
11: 121,563,846 (GRCm39) |
E5K |
probably benign |
Het |
Faf1 |
T |
A |
4: 109,697,600 (GRCm39) |
F309I |
probably damaging |
Het |
Fhod3 |
T |
G |
18: 25,248,850 (GRCm39) |
M1343R |
probably benign |
Het |
Fnbp1 |
A |
G |
2: 30,995,303 (GRCm39) |
F44L |
probably damaging |
Het |
Gm3633 |
A |
T |
14: 42,460,324 (GRCm39) |
Y206* |
probably null |
Het |
Gprc6a |
A |
C |
10: 51,503,180 (GRCm39) |
F228V |
probably damaging |
Het |
Kif2a |
A |
G |
13: 107,111,060 (GRCm39) |
I529T |
probably damaging |
Het |
Lrrc19 |
C |
T |
4: 94,526,745 (GRCm39) |
V271I |
probably damaging |
Het |
Ncaph2 |
A |
G |
15: 89,248,041 (GRCm39) |
|
probably null |
Het |
Nek5 |
A |
G |
8: 22,610,856 (GRCm39) |
I49T |
probably benign |
Het |
Nhlrc3 |
A |
T |
3: 53,360,958 (GRCm39) |
|
probably benign |
Het |
Or51ac3 |
A |
G |
7: 103,214,228 (GRCm39) |
V86A |
probably damaging |
Het |
Or52n20 |
A |
T |
7: 104,320,871 (GRCm39) |
S321C |
probably damaging |
Het |
Or8g28 |
C |
A |
9: 39,169,559 (GRCm39) |
M136I |
probably damaging |
Het |
Pcnx2 |
T |
C |
8: 126,528,297 (GRCm39) |
T1308A |
probably benign |
Het |
Pla2g6 |
T |
C |
15: 79,188,513 (GRCm39) |
N448S |
probably benign |
Het |
Pole |
T |
A |
5: 110,446,132 (GRCm39) |
L571Q |
probably null |
Het |
Rufy1 |
A |
G |
11: 50,281,205 (GRCm39) |
|
probably benign |
Het |
Sftpd |
C |
A |
14: 40,894,592 (GRCm39) |
A276S |
probably benign |
Het |
Slc35f4 |
A |
C |
14: 49,556,225 (GRCm39) |
V176G |
probably damaging |
Het |
Snrpb |
T |
C |
2: 130,017,251 (GRCm39) |
D89G |
probably benign |
Het |
Stab2 |
A |
T |
10: 86,790,035 (GRCm39) |
V577D |
probably benign |
Het |
Synrg |
A |
C |
11: 83,872,334 (GRCm39) |
S152R |
probably damaging |
Het |
Trgv7 |
T |
C |
13: 19,362,260 (GRCm39) |
|
probably benign |
Het |
Trpm1 |
A |
G |
7: 63,876,645 (GRCm39) |
E682G |
probably damaging |
Het |
Unc80 |
T |
C |
1: 66,718,744 (GRCm39) |
I2989T |
probably benign |
Het |
Vmn1r116 |
A |
G |
7: 20,606,373 (GRCm39) |
T65A |
probably benign |
Het |
Zfp469 |
G |
A |
8: 122,998,009 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Il31ra |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00095:Il31ra
|
APN |
13 |
112,684,012 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL00639:Il31ra
|
APN |
13 |
112,686,093 (GRCm39) |
nonsense |
probably null |
|
IGL02009:Il31ra
|
APN |
13 |
112,670,401 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02431:Il31ra
|
APN |
13 |
112,666,830 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02675:Il31ra
|
APN |
13 |
112,660,886 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02718:Il31ra
|
APN |
13 |
112,666,903 (GRCm39) |
nonsense |
probably null |
|
IGL03388:Il31ra
|
APN |
13 |
112,682,746 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03408:Il31ra
|
APN |
13 |
112,662,422 (GRCm39) |
missense |
probably benign |
0.21 |
R0482:Il31ra
|
UTSW |
13 |
112,664,015 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0639:Il31ra
|
UTSW |
13 |
112,662,377 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0905:Il31ra
|
UTSW |
13 |
112,668,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R0948:Il31ra
|
UTSW |
13 |
112,666,912 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1420:Il31ra
|
UTSW |
13 |
112,668,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R1538:Il31ra
|
UTSW |
13 |
112,684,000 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1776:Il31ra
|
UTSW |
13 |
112,677,773 (GRCm39) |
missense |
probably damaging |
0.97 |
R1931:Il31ra
|
UTSW |
13 |
112,677,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R2006:Il31ra
|
UTSW |
13 |
112,666,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R2134:Il31ra
|
UTSW |
13 |
112,680,422 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3103:Il31ra
|
UTSW |
13 |
112,666,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R4089:Il31ra
|
UTSW |
13 |
112,688,453 (GRCm39) |
nonsense |
probably null |
|
R4742:Il31ra
|
UTSW |
13 |
112,660,501 (GRCm39) |
nonsense |
probably null |
|
R4787:Il31ra
|
UTSW |
13 |
112,664,079 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5154:Il31ra
|
UTSW |
13 |
112,660,531 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5193:Il31ra
|
UTSW |
13 |
112,660,864 (GRCm39) |
missense |
probably benign |
0.34 |
R5402:Il31ra
|
UTSW |
13 |
112,660,669 (GRCm39) |
missense |
probably benign |
0.01 |
R5743:Il31ra
|
UTSW |
13 |
112,664,021 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5917:Il31ra
|
UTSW |
13 |
112,682,846 (GRCm39) |
missense |
probably benign |
|
R6126:Il31ra
|
UTSW |
13 |
112,666,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R6414:Il31ra
|
UTSW |
13 |
112,660,441 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6580:Il31ra
|
UTSW |
13 |
112,688,476 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6727:Il31ra
|
UTSW |
13 |
112,683,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R6783:Il31ra
|
UTSW |
13 |
112,688,522 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6912:Il31ra
|
UTSW |
13 |
112,685,998 (GRCm39) |
missense |
probably damaging |
0.99 |
R6925:Il31ra
|
UTSW |
13 |
112,664,063 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7187:Il31ra
|
UTSW |
13 |
112,682,845 (GRCm39) |
missense |
probably benign |
0.04 |
R7210:Il31ra
|
UTSW |
13 |
112,686,034 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7236:Il31ra
|
UTSW |
13 |
112,660,439 (GRCm39) |
makesense |
probably null |
|
R7323:Il31ra
|
UTSW |
13 |
112,688,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R7618:Il31ra
|
UTSW |
13 |
112,688,514 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7783:Il31ra
|
UTSW |
13 |
112,677,785 (GRCm39) |
missense |
probably benign |
|
R8353:Il31ra
|
UTSW |
13 |
112,660,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R8453:Il31ra
|
UTSW |
13 |
112,660,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R8679:Il31ra
|
UTSW |
13 |
112,662,372 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8890:Il31ra
|
UTSW |
13 |
112,660,861 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9032:Il31ra
|
UTSW |
13 |
112,660,628 (GRCm39) |
missense |
|
|
R9077:Il31ra
|
UTSW |
13 |
112,670,361 (GRCm39) |
missense |
probably benign |
0.00 |
R9085:Il31ra
|
UTSW |
13 |
112,660,628 (GRCm39) |
missense |
|
|
R9147:Il31ra
|
UTSW |
13 |
112,670,276 (GRCm39) |
missense |
probably benign |
0.01 |
R9148:Il31ra
|
UTSW |
13 |
112,670,276 (GRCm39) |
missense |
probably benign |
0.01 |
R9158:Il31ra
|
UTSW |
13 |
112,670,394 (GRCm39) |
nonsense |
probably null |
|
R9178:Il31ra
|
UTSW |
13 |
112,677,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R9250:Il31ra
|
UTSW |
13 |
112,669,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R9260:Il31ra
|
UTSW |
13 |
112,668,202 (GRCm39) |
missense |
probably damaging |
0.98 |
R9312:Il31ra
|
UTSW |
13 |
112,686,023 (GRCm39) |
missense |
probably benign |
0.01 |
R9381:Il31ra
|
UTSW |
13 |
112,668,253 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Posted On |
2013-12-09 |